A9T (p.Ala9Thr) variant of CHEK2 (O96017)
A9T (p.Ala9Thr) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs757530141
- ClinGen CA10583919
- cosmic curated COSV60426
- ClinVar RCV000229227
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.07
- MetaLR 0.55
- MetaSVM -0.35
- PolyPhen-2 0.01
- SIFT 0.11
- MutPred 0.08
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)